Max's Story

Max is a sweet and joyful 4-year-old who loves Wreck-It Ralph, going for walks in his toy car, and playing outside. During pregnancy, Max was diagnosed with intrauterine growth restriction (IUGR), leading to an early induction. Fortunately, he was born healthy, and doctors were unable to pinpoint the cause of the IUGR.

From birth until age 2, Max developed typically, hitting all his milestones without any concerns. However, at age 2, he began to regress, losing all of his speech—both expressive and receptive. Alarmed, we immediately sought help from doctors and specialists. Initially, we were told that Max had autism, but we did not feel this diagnosis fully explained the rapid and dramatic regression he had experienced. After further discussions with our doctor, we pursued genetic testing to explore other possibilities.

The testing revealed that Max has an ultra-rare genetic disorder called KMT2B, a recently discovered mutation that leads to dystonia. While Max does not currently exhibit dystonia, he faces numerous challenges, including developmental delays and being nonverbal.

Max receives care from a neurologist and audiologist at Phoenix Children’s Hospital and a developmental pediatrician in Tucson. Additionally, we are collaborating with researchers at Harvard to explore treatments that may help address his genetic mutation.